539 related articles for article (PubMed ID: 29178624)
21. A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.
Ono R; Masaki T; Mayca Pozo F; Nakazawa Y; Swagemakers SM; Nakano E; Sakai W; Takeuchi S; Kanda F; Ogi T; van der Spek PJ; Sugasawa K; Nishigori C
Photodermatol Photoimmunol Photomed; 2016 Jul; 32(4):174-80. PubMed ID: 26993158
[TBL] [Abstract][Full Text] [Related]
22. Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
Messaoud O; Rekaya MB; Ouragini H; Benfadhel S; Azaiez H; Kefi R; Gouider-Khouja N; Mokhtar I; Amouri A; Boubaker MS; Zghal M; Abdelhak S
Arch Dermatol Res; 2012 Mar; 304(2):171-6. PubMed ID: 22081045
[TBL] [Abstract][Full Text] [Related]
23. XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.
Ijaz A; Basit S; Gul A; Batool L; Hussain A; Afzal S; Ramzan K; Ahmad J; Wali A
Congenit Anom (Kyoto); 2019 Jan; 59(1):18-21. PubMed ID: 29569758
[TBL] [Abstract][Full Text] [Related]
24. A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma.
Sidwell RU; Sandison A; Wing J; Fawcett HD; Seet JE; Fisher C; Nardo T; Stefanini M; Lehmann AR; Cream JJ
Br J Dermatol; 2006 Jul; 155(1):81-8. PubMed ID: 16792756
[TBL] [Abstract][Full Text] [Related]
25. A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.
Cartault F; Nava C; Malbrunot AC; Munier P; Hebert JC; N'guyen P; Djeridi N; Pariaud P; Pariaud J; Dupuy A; Austerlitz F; Sarasin A
DNA Repair (Amst); 2011 Jun; 10(6):577-85. PubMed ID: 21482201
[TBL] [Abstract][Full Text] [Related]
26. Xeroderma pigmentosum genes and melanoma risk.
Paszkowska-Szczur K; Scott RJ; Serrano-Fernandez P; Mirecka A; Gapska P; Górski B; Cybulski C; Maleszka R; Sulikowski M; Nagay L; Lubinski J; Dębniak T
Int J Cancer; 2013 Sep; 133(5):1094-100. PubMed ID: 23436679
[TBL] [Abstract][Full Text] [Related]
27. Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.
Kobayashi T; Uchiyama M; Fukuro S; Tanaka K
Am J Med Genet; 2002 Jul; 110(3):248-52. PubMed ID: 12116233
[TBL] [Abstract][Full Text] [Related]
28. DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum.
Kraemer KH; Lee MM; Scotto J
Carcinogenesis; 1984 Apr; 5(4):511-4. PubMed ID: 6705149
[TBL] [Abstract][Full Text] [Related]
29. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
Frederick GD; Amirkhan RH; Schultz RA; Friedberg EC
Hum Mol Genet; 1994 Oct; 3(10):1783-8. PubMed ID: 7849702
[TBL] [Abstract][Full Text] [Related]
30. Xeroderma pigmentosum at a tertiary care center in Saudi Arabia.
Alwatban L; Binamer Y
Ann Saudi Med; 2017; 37(3):240-244. PubMed ID: 28578364
[TBL] [Abstract][Full Text] [Related]
31. Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
Santiago KM; Castro LP; Neto JPD; de Nóbrega AF; Pinto CAL; Ashton-Prolla P; Pinto E Vairo F; de Medeiros PFV; Ribeiro EM; Ribeiro BFR; do Valle FF; Doriqui MJR; Leite CHB; Rocha RM; Moura LMS; Munford V; Galante PAF; Menck CFM; Rogatto SR; Achatz MI
J Eur Acad Dermatol Venereol; 2020 Oct; 34(10):2392-2401. PubMed ID: 32239545
[TBL] [Abstract][Full Text] [Related]
32. Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
Emmert S; Ueda T; Zumsteg U; Weber P; Khan SG; Oh KS; Boyle J; Laspe P; Zachmann K; Boeckmann L; Kuschal C; Bircher A; Kraemer KH
Exp Dermatol; 2009 Jan; 18(1):64-8. PubMed ID: 18637129
[TBL] [Abstract][Full Text] [Related]
33. c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.
Senhaji MA; Abidi O; Nadifi S; Benchikhi H; Khadir K; Ben Rekaya M; Eloualid A; Messaoud O; Abdelhak S; Barakat A
Arch Dermatol Res; 2013 Jan; 305(1):53-57. PubMed ID: 23143338
[TBL] [Abstract][Full Text] [Related]
34. Neurological symptoms and natural course of xeroderma pigmentosum.
Anttinen A; Koulu L; Nikoskelainen E; Portin R; Kurki T; Erkinjuntti M; Jaspers NG; Raams A; Green MH; Lehmann AR; Wing JF; Arlett CF; Marttila RJ
Brain; 2008 Aug; 131(Pt 8):1979-89. PubMed ID: 18567921
[TBL] [Abstract][Full Text] [Related]
35. Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
Takayama K; Salazar EP; Lehmann A; Stefanini M; Thompson LH; Weber CA
Cancer Res; 1995 Dec; 55(23):5656-63. PubMed ID: 7585650
[TBL] [Abstract][Full Text] [Related]
36. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.
Bradford PT; Goldstein AM; Tamura D; Khan SG; Ueda T; Boyle J; Oh KS; Imoto K; Inui H; Moriwaki S; Emmert S; Pike KM; Raziuddin A; Plona TM; DiGiovanna JJ; Tucker MA; Kraemer KH
J Med Genet; 2011 Mar; 48(3):168-76. PubMed ID: 21097776
[TBL] [Abstract][Full Text] [Related]
37. Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
Kobayashi T; Kuraoka I; Saijo M; Nakatsu Y; Tanaka A; Someda Y; Fukuro S; Tanaka K
Hum Mutat; 1997; 9(4):322-31. PubMed ID: 9101292
[TBL] [Abstract][Full Text] [Related]
38. Germline and somatic mutations of the INK4a-ARF gene in a xeroderma pigmentosum group C patient.
Soufir N; Ribojad M; Magnaldo T; Thibaudeau O; Delestaing G; Daya-Grosjean L; Rivet J; Sarasin A; Basset-Seguin N
J Invest Dermatol; 2002 Dec; 119(6):1355-60. PubMed ID: 12485439
[TBL] [Abstract][Full Text] [Related]
39. Significantly high levels of ultraviolet-specific mutations in the smoothened gene in basal cell carcinomas from DNA repair-deficient xeroderma pigmentosum patients.
Couvé-Privat S; Bouadjar B; Avril MF; Sarasin A; Daya-Grosjean L
Cancer Res; 2002 Dec; 62(24):7186-9. PubMed ID: 12499255
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
